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ErkrankungGliedergürtel-Muskeldystrophie, autosomal dominant; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gliedergürtel-Muskel-dystrophie (dominant) mit 10 bzw. 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP0041
Anzahl Gene
20 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,6 kb (Core-/Basis-Gene)
97,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CAPN32466AD und/oder AR
CAV3456AD und/oder Ass
COL6A13087AD und/oder AR
COL6A23060AD und/oder AR
COL6A39534AD und/oder AR
DES1413AD und/oder AR
DNAJB6981AD
HNRNPDL1263AD
LMNA1995AD und/oder AR und/oder Dig
MYOT1497AD
TNPO32772AD
BAG31728AD
CRYAB528AD
FLNC8178AD
MYH75808AD und/oder AR und/oder Dig
ORAI1912AD und/oder AR
STIM12058AD und/oder AR
SYNE126250AD und/oder AR
SYNE220658AD
VCP2421AD

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Muskeldystrophien mit proximaler Schwäche im Becken- + Schultergürtel; bei bestimmten Formen kardiale + respiratorische Beeinträchtigung

 

Synonyme
  • Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
  • Allelic: Cardiomyopathy, dilated, 1I (DES)
  • Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
  • Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
  • Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
  • Allelic: Cataract 16, multiple types (CRYAB)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Creatine phosphokinase, elevated serum (CAV3)
  • Allelic: Dystonia 27 (COL6A3)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Immunodeficiency 10 (STIM1)
  • Allelic: Immunodeficiency 9 (ORAI1)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Myopathy, distal, 4 (FLNC)
  • Allelic: Myopathy, distal, Tateyama type (CAV3)
  • Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Allelic: Myosclerosis, congenital (COL6A2)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Allelic: Stormorken syndrome (STIM1)
  • Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Central core disease (RYR1)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Limb-Girdle Muscular Dystrophy [panelapp] (LMNA)
  • Limb-girdle muscular dystrophy, LGMD1R (LMNA)
  • Muscular dystrophy, limb-girdle, AD 3 (HNRNPDL)
  • Muscular dystrophy, limb-girdle, autosomal dominant 2 (TNPO3)
  • Muscular dystrophy, limb-girdle, type 1A (MYOT)
  • Muscular dystrophy, limb-girdle, type 1C (CAV3)
  • Muscular dystrophy, limb-girdle, type 1E (DNAJB6)
  • Muscular dystrophy, limb-girdle, type 1G (HNRNPDL)
  • Muscular dystrophy, limb-girdle, type 2A (CAPN3)
  • Muscular dystrophy, limb-girdle, type 2R (DES)
  • Muscular dystrophy-dystroglycanopathy, cong. with impaired intell. development, type B, 15 (DPM3)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
  • Myopathy, myofibrillar, 1 (DES)
  • Myopathy, myofibrillar, 2 (CRYAB)
  • Myopathy, myofibrillar, 5 (FLNC)
  • Myopathy, myofibrillar, 6 (BAG3)
  • Myopathy, tubular aggregate, 1 (STIM1)
  • Myopathy, tubular aggregate, 2 (ORAI1)
  • Myopathy, vacuolar, with CASQ1 aggregates (CASQ1)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Rippling muscle disease (CAV3)
  • Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder Ass
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G71.0

Bioinformatik und klinische Interpretation

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